Product Details

Primer Sequences
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Primer Chromosome Location
Chr.4: 122743113-122743623 on Build GRCh38
Format
Each primer will be delivered in a single tube, dried-down
Quick Reference Guide
Primer Designer™ Tool Quick Reference
Ampliseq ID's

Gene Details

Gene Symbol
BBS12
Entrez Gene ID
166379
Gene Name
Bardet-Biedl syndrome 12
Gene Aliases
C4orf24
UniGene
Hs.400698
Gene Chromosome Location
Chr.4: 122700437-122744943 on Build GRCh38
Transcripts
NM_001178007.1 NM_152618.2 XM_011531680.2 XM_017007831.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6999912 c.1397G>A p.G466D Chr.4: 122743289-122743289 on Build GRCh38
4910143 c.1449T>C p.D483D Chr.4: 122743341-122743341 on Build GRCh38
1727606 c.1278_1279delTA p.I427fs*3 Chr.4: 122743170-122743171 on Build GRCh38
4985274 c.1381A>C p.N461H Chr.4: 122743273-122743273 on Build GRCh38
7188489 c.1409G>T p.C470F Chr.4: 122743301-122743301 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs144855583 Chr.4: 122743398-122743398 on Build GRCh38
rs754049744 Chr.4: 122743382-122743382 on Build GRCh38
rs374865012 Chr.4: 122743399-122743399 on Build GRCh38
rs770746493 Chr.4: 122743463-122743463 on Build GRCh38
rs777299324 Chr.4: 122743404-122743404 on Build GRCh38
rs758773391 Chr.4: 122743340-122743340 on Build GRCh38
rs142593414 Chr.4: 122743396-122743396 on Build GRCh38
rs543608786 Chr.4: 122743489-122743489 on Build GRCh38
rs145489987 Chr.4: 122743357-122743357 on Build GRCh38
rs886059058 Chr.4: 122743169-122743169 on Build GRCh38
rs1035612710 Chr.4: 122743238-122743238 on Build GRCh38
rs199596849 Chr.4: 122743153-122743153 on Build GRCh38
rs752062702 Chr.4: 122743507-122743507 on Build GRCh38
rs34652786 Chr.4: 122743149-122743149 on Build GRCh38
rs138011813 Chr.4: 122743394-122743394 on Build GRCh38
rs777777112 Chr.4: 122743251-122743251 on Build GRCh38
rs747391957 Chr.4: 122743346-122743346 on Build GRCh38
rs771456483 Chr.4: 122743168-122743168 on Build GRCh38
rs745958967 Chr.4: 122743580-122743580 on Build GRCh38
rs759793696 Chr.4: 122743329-122743329 on Build GRCh38
rs770698414 Chr.4: 122743411-122743411 on Build GRCh38
rs772894742 Chr.4: 122743351-122743351 on Build GRCh38
rs765979846 Chr.4: 122743150-122743150 on Build GRCh38
rs538077275 Chr.4: 122743189-122743189 on Build GRCh38
rs781664869 Chr.4: 122743523-122743523 on Build GRCh38
rs776555454 Chr.4: 122743594-122743594 on Build GRCh38
rs776730549 Chr.4: 122743466-122743466 on Build GRCh38
rs148277417 Chr.4: 122743500-122743500 on Build GRCh38
rs751384954 Chr.4: 122743138-122743138 on Build GRCh38
rs956879119 Chr.4: 122743406-122743406 on Build GRCh38
rs778351153 Chr.4: 122743154-122743154 on Build GRCh38
rs755314355 Chr.4: 122743508-122743508 on Build GRCh38
rs764246970 Chr.4: 122743379-122743379 on Build GRCh38
rs745341856 Chr.4: 122743434-122743434 on Build GRCh38
rs2292494 Chr.4: 122743410-122743410 on Build GRCh38
rs767887679 Chr.4: 122743237-122743237 on Build GRCh38
rs774541720 Chr.4: 122743480-122743480 on Build GRCh38
rs778686947 Chr.4: 122743578-122743578 on Build GRCh38
rs769108774 Chr.4: 122743446-122743446 on Build GRCh38
rs751436264 Chr.4: 122743232-122743232 on Build GRCh38
rs766332688 Chr.4: 122743215-122743215 on Build GRCh38
rs907927925 Chr.4: 122743356-122743356 on Build GRCh38
rs778636035 Chr.4: 122743413-122743413 on Build GRCh38
rs201513398 Chr.4: 122743496-122743496 on Build GRCh38
rs762994041 Chr.4: 122743504-122743504 on Build GRCh38
rs376531209 Chr.4: 122743352-122743352 on Build GRCh38
rs13135445 Chr.4: 122743302-122743302 on Build GRCh38
rs757014641 Chr.4: 122743577-122743577 on Build GRCh38
rs7665271 Chr.4: 122743178-122743178 on Build GRCh38
rs148850607 Chr.4: 122743359-122743359 on Build GRCh38
rs769369013 Chr.4: 122743347-122743347 on Build GRCh38
rs1010403072 Chr.4: 122743511-122743511 on Build GRCh38
rs969284046 Chr.4: 122743562-122743562 on Build GRCh38
rs13135778 Chr.4: 122743291-122743291 on Build GRCh38
rs536542331 Chr.4: 122743503-122743503 on Build GRCh38
rs753004315 Chr.4: 122743550-122743550 on Build GRCh38
rs762853916 Chr.4: 122743195-122743195 on Build GRCh38
rs749383671 Chr.4: 122743261-122743261 on Build GRCh38
rs772662554 Chr.4: 122743275-122743275 on Build GRCh38
rs750488316 Chr.4: 122743395-122743395 on Build GRCh38
rs10027479 Chr.4: 122743273-122743273 on Build GRCh38
rs766741204 Chr.4: 122743177-122743180 on Build GRCh38
rs746904755 Chr.4: 122743590-122743590 on Build GRCh38
rs749703014 Chr.4: 122743160-122743160 on Build GRCh38
rs773214415 Chr.4: 122743194-122743194 on Build GRCh38
rs13135766 Chr.4: 122743272-122743272 on Build GRCh38
rs551477360 Chr.4: 122743259-122743259 on Build GRCh38
rs373652329 Chr.4: 122743282-122743282 on Build GRCh38
rs764582469 Chr.4: 122743191-122743191 on Build GRCh38
rs956001967 Chr.4: 122743222-122743222 on Build GRCh38
rs775189952 Chr.4: 122743360-122743360 on Build GRCh38
rs756955366 Chr.4: 122743183-122743183 on Build GRCh38
rs776267938 Chr.4: 122743270-122743270 on Build GRCh38
rs17006094 Chr.4: 122743179-122743179 on Build GRCh38
rs1022524996 Chr.4: 122743429-122743429 on Build GRCh38
rs745393351 Chr.4: 122743579-122743579 on Build GRCh38
rs766815204 Chr.4: 122743506-122743506 on Build GRCh38
rs779858752 Chr.4: 122743588-122743588 on Build GRCh38
rs772186278 Chr.4: 122743462-122743462 on Build GRCh38
rs760496730 Chr.4: 122743368-122743368 on Build GRCh38
rs757744640 Chr.4: 122743263-122743263 on Build GRCh38
rs144910481 Chr.4: 122743294-122743294 on Build GRCh38
rs1035420094 Chr.4: 122743218-122743218 on Build GRCh38
rs144714398 Chr.4: 122743264-122743264 on Build GRCh38
rs140675688 Chr.4: 122743303-122743303 on Build GRCh38
rs940469979 Chr.4: 122743305-122743305 on Build GRCh38
rs779652397 Chr.4: 122743136-122743136 on Build GRCh38
rs756234490 Chr.4: 122743245-122743245 on Build GRCh38
rs756297342 Chr.4: 122743435-122743437 on Build GRCh38
rs778635548 Chr.4: 122743235-122743235 on Build GRCh38
rs760420127 Chr.4: 122743465-122743465 on Build GRCh38
rs587777802 Chr.4: 122743375-122743376 on Build GRCh38
rs752905664 Chr.4: 122743241-122743241 on Build GRCh38
rs776216693 Chr.4: 122743184-122743184 on Build GRCh38
rs577035373 Chr.4: 122743325-122743325 on Build GRCh38
rs145392789 Chr.4: 122743391-122743391 on Build GRCh38
rs2292493 Chr.4: 122743290-122743290 on Build GRCh38
rs779427238 Chr.4: 122743324-122743324 on Build GRCh38
rs757311921 Chr.4: 122743317-122743317 on Build GRCh38
rs756359668 Chr.4: 122743297-122743297 on Build GRCh38
rs772384964 Chr.4: 122743265-122743265 on Build GRCh38
rs886059059 Chr.4: 122743482-122743482 on Build GRCh38
rs747904021 Chr.4: 122743596-122743596 on Build GRCh38
rs774615740 Chr.4: 122743197-122743197 on Build GRCh38
rs368003653 Chr.4: 122743515-122743515 on Build GRCh38
rs35690634 Chr.4: 122743343-122743343 on Build GRCh38
rs201158536 Chr.4: 122743181-122743181 on Build GRCh38
rs748915933 Chr.4: 122743405-122743405 on Build GRCh38
rs200854009 Chr.4: 122743475-122743475 on Build GRCh38
rs77303155 Chr.4: 122743535-122743535 on Build GRCh38
rs921611098 Chr.4: 122743482-122743482 on Build GRCh38
rs752762669 Chr.4: 122743422-122743430 on Build GRCh38

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